Autosomal recessive juvenile parkinsonism

@article{Saito2000AutosomalRJ,
  title={Autosomal recessive juvenile parkinsonism},
  author={Masaaki Saito and Mieko Maruyama and Ken Ikeuchi and Hiroshi Kondo and Atsushi Ishikawa and Tatsuhiko Yuasa and Shoji Tsuji},
  journal={Brain and Development},
  year={2000},
  volume={22},
  pages={115-117}
}
Parkin genetics: one model for Parkinson's disease.
TLDR
Comparing and contrast PD and AR-JP is compared and compared and the implications of recent data about parkin's genomic organization, regulation and function are discussed.
Clinico-pathological study of a case of familial parkinsonism with striatal degeneration
TLDR
It seems that this familial bilateral striatal degeneration is a new variant of familial parkinsonism, similar to those of X-linked dystonia parkinsonist (Lubag), which is slowly progressive and responsive to levodopa therapy to a variable degree.
PINK1 mutation in Taiwanese early-onset parkinsonism
TLDR
The incidence of carrying PINK1 mutations in the present cohort of Taiwanese EOPD patients was low, accounting for 2/39 (5.1%) in familial cases, and 2/99 (2 %) in sporadic cases.
Parkin and Parkinson's disease
TLDR
This review article evaluates the developments in this area published since 1 February 2000 and concludes that many studies still need to be performed to elucidate the molecular mechanism of the selective nigral neurodegeneration in this form of familial Parkinson's disease, it will not be too long before this is accomplished.
Estudio de la fosforilación de parkina y sus implicaciones en la enfermedad de Parkinson
TLDR
Regulating the phosphorylation status of parkin has beneficial effects in reducing parkin aggregation and concomitant inactivation, and these findings may help in the design of novel therapeutic strategies against PD.
Levodopa responsiveness in disorders with parkinsonism: A review of the literature
TLDR
Magnitude and duration of response to LD and tolerability may be useful features in distinguishing PD, MSA, PSP, and CBD and efforts should be directed toward better defining LR when used for diagnostic purposes and in scientific publications.
Pathological proteins in Parkinson’s disease
TLDR
Increasing numbers of experiments suggest that neurotoxins might interact with α-synuclein or other Parkinson-related proteins to contribute to the pathophysiology of PD.
Cyclin-Dependent Kinase 5 – An Emerging Player in Parkinson’s Disease Pathophysiology
TLDR
There is an urgent need to elucidate the cellular mechanism underlying PD pathology for the development of more effective treatments and extensive research aimed at elucidating the mechanisms implicated in the degeneration of these neurons.
Expanding Phenotype and Clinical Heterogeneity in Patients with Identical Mutation of the Parkin Gene
TLDR
The patient was not retreated with BTX in consideration of the risk-benefit therapy ratio and because of his still partial and incomplete recovery at 6 months, even though his focal spasticity was again marked and severe (Ashworth modified scale: 4); thus far no further concomitant pathology had been detected.
Parkin expression in the developing mouse.
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References

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A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
TLDR
It is shown that a wide variety of different mutations in the parkin gene are a common cause of autosomal recessive parkinsonism in Europe and that different types of point mutations seem to be more frequently responsible for the disease phenotype than are deletions.
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
TLDR
Mutations in the newly identified gene appear to be responsible for the pathogenesis of Autosomal recessive juvenile parkinsonism, and the protein product is named ‘Parkin’.
Novel mutations, pseudo‐dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism
TLDR
Although a wide range of ages at onset was observed, there was no correlation between age at onset and genotype, and multiple mutant alleles were identified in 1 family.
A susceptibility locus for Parkinson's disease maps to chromosome 2p13
TLDR
A different genetic locus that appears to be involved in the development of parkinsonism closely resembling sporadic PD is described including a similar mean age of onset (59 years in the families, 59.7 years in sporadic PD; ref. 12).
Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism
TLDR
The similarity of clinical findings in these patients, and the differences from other types of parkinsonism, indicates that AR-JP is a distinct clinical entity.
Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region.
TLDR
A detailed genetic map of the linked region and the position of the manganese superoxide dismutase gene (SOD2) is constructed and the apparent homozygosity for null alleles at D6S955 in one family suggested a deletion and finer localization of the JP locus.
Familial juvenile parkinsonism
We describe a family with juvenile-onset parkinsonism, which improved following sleep. Four of the five siblings in this family developed a similar onset of parkinsonism at an early age, and the
Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the Parkin gene in affected individuals
TLDR
The findings indicate that loss of function of the Parkin protein results in the clinical phenotype of AR‐JP and that subregions between introns 2 and 5 of the parkin gene are mutational hot spots.
Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27.
TLDR
Strong evidence is discovered for the localization of the AR-JP gene at chromosome 6q25, including the SOD2 locus, by linkage analysis of diallelic polymorphism of the Mn-superoxide dismutase gene (SOD2).
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
TLDR
A mutation was identified in the α-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype.
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